Open AccessA homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
Author(s) -
Marianthi Breza,
Thomas Bourinaris,
Stéphanie Efthymiou,
Reza Maroofian,
Alkyoni AthanasiouFragkouli,
John S. Tzartos,
Georgios Velonakis,
Efstratios Karavasilis,
Georgia Angelopoulou,
Dimitrios Kasselimis,
Constantin Potagas,
Leonidas Stefanis,
Georgia Karadima,
Georgios Koutsis,
Henry Houlden
Publication year - 2020
Publication title -
brain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.142
H-Index - 336
eISSN - 1460-2156
pISSN - 0006-8950
DOI - 10.1093/brain/awaa120
Subject(s) - ataxia , cerebellar ataxia , cerebellum , medicine , neuroscience , audiology , psychology
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